ClinVar Miner

List of variants in gene COX10 studied for inborn mitochondrial metabolism disorder

Included ClinVar conditions (412):
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Gene type:
ClinVar version:
Total variants: 152
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HGVS dbSNP gnomAD frequency
NM_001303.3(COX10):c.-112G>A rs6502330 0.99477
NM_001303.4(COX10):c.504G>A (p.Leu168=) rs2159132 0.53492
NM_001303.4(COX10):c.476G>A (p.Arg159Gln) rs2072279 0.48875
NM_001303.4(COX10):c.*1385C>T rs1050223 0.26244
NM_001303.4(COX10):c.*1078C>T rs13183 0.23332
NM_001303.4(COX10):c.*297G>A rs8076247 0.23328
NM_001303.4(COX10):c.*371A>G rs11078234 0.18397
NM_001303.4(COX10):c.*1076T>C rs1050216 0.17502
NM_001303.4(COX10):c.*757T>C rs1802618 0.15929
NM_001303.4(COX10):c.*322T>C rs11078233 0.15800
NM_001303.3(COX10):c.-109G>A rs28680987 0.15186
NM_001303.4(COX10):c.184A>T (p.Thr62Ser) rs2230351 0.06303
NM_001303.4(COX10):c.1038G>A (p.Ser346=) rs2230355 0.02804
NM_001303.4(COX10):c.-63C>T rs77877576 0.02405
NM_001303.4(COX10):c.83C>T (p.Thr28Ile) rs16948978 0.01976
NM_001303.4(COX10):c.*438G>C rs75823746 0.01767
NM_001303.4(COX10):c.*974C>A rs2071245 0.01762
NM_001303.4(COX10):c.290A>G (p.Tyr97Cys) rs16948986 0.01758
NM_001303.4(COX10):c.*1267A>G rs75844637 0.01645
NM_001303.4(COX10):c.*1101C>T rs75165393 0.01548
NM_001303.4(COX10):c.*1079G>A rs116445114 0.01056
NM_001303.4(COX10):c.682C>T (p.Arg228Cys) rs114521946 0.00727
NM_001303.4(COX10):c.*305A>G rs143758001 0.00462
NM_001303.4(COX10):c.*1324C>T rs75636595 0.00341
NM_001303.4(COX10):c.*904C>G rs75839697 0.00276
NM_001303.4(COX10):c.*1148G>A rs151138383 0.00272
NM_001303.4(COX10):c.929-7C>T rs62052075 0.00220
NM_001303.4(COX10):c.1291C>T (p.Arg431Trp) rs113058506 0.00212
NM_001303.4(COX10):c.981C>T (p.Asn327=) rs146175179 0.00098
NM_001303.4(COX10):c.93C>A (p.Asp31Glu) rs141481210 0.00090
NM_001303.4(COX10):c.302C>T (p.Pro101Leu) rs145948285 0.00081
NM_001303.4(COX10):c.1027T>C (p.Cys343Arg) rs200818252 0.00041
NM_001303.4(COX10):c.*859G>T rs974629254 0.00038
NM_001303.4(COX10):c.535T>C (p.Leu179=) rs143593847 0.00038
NM_001303.4(COX10):c.-29C>A rs373184679 0.00032
NM_001303.4(COX10):c.192G>A (p.Leu64=) rs569444237 0.00021
NM_001303.4(COX10):c.1066G>A (p.Val356Met) rs554973181 0.00017
NM_001303.4(COX10):c.624+4A>G rs199668725 0.00017
NM_001303.4(COX10):c.*1459del rs574015313 0.00016
NM_001303.4(COX10):c.*823C>T rs886052609 0.00016
NM_001303.4(COX10):c.311C>T (p.Pro104Leu) rs202207627 0.00016
NM_001303.4(COX10):c.1064G>A (p.Arg355His) rs757204220 0.00014
NM_001303.4(COX10):c.*591_*592del rs886052606 0.00013
NM_001303.4(COX10):c.*894G>T rs573080780 0.00013
NM_001303.4(COX10):c.*13G>A rs371047487 0.00011
NM_001303.4(COX10):c.48C>T (p.Cys16=) rs748889500 0.00010
NM_001303.4(COX10):c.307T>G (p.Ser103Ala) rs200480915 0.00008
NM_001303.4(COX10):c.625T>C (p.Phe209Leu) rs767032314 0.00008
NM_001303.4(COX10):c.1193G>A (p.Arg398His) rs200942884 0.00007
NM_001303.4(COX10):c.-24G>A rs201257809 0.00006
NM_001303.4(COX10):c.1007A>T (p.Asp336Val) rs104894557 0.00006
NM_001303.4(COX10):c.1192C>T (p.Arg398Cys) rs368724576 0.00006
NM_001303.4(COX10):c.260C>T (p.Thr87Ile) rs144000161 0.00006
NM_001303.4(COX10):c.1061G>A (p.Arg354Gln) rs745492359 0.00005
NM_001303.4(COX10):c.173G>A (p.Arg58His) rs772223730 0.00005
NM_001303.4(COX10):c.*535C>A rs886052604 0.00004
NM_001303.4(COX10):c.1070C>T (p.Ala357Val) rs148783821 0.00004
NM_001303.4(COX10):c.394G>T (p.Asp132Tyr) rs141549844 0.00004
NM_001303.4(COX10):c.543G>A (p.Pro181=) rs371273328 0.00004
NM_001303.4(COX10):c.*152T>A rs886052602 0.00003
NM_001303.4(COX10):c.*628C>T rs886052607 0.00003
NM_001303.4(COX10):c.1185C>T (p.Leu395=) rs772255579 0.00003
NM_001303.4(COX10):c.44-3T>C rs759643676 0.00003
NM_001303.4(COX10):c.1169C>T (p.Ala390Val) rs749603596 0.00002
NM_001303.4(COX10):c.695+11G>A rs201826759 0.00002
NM_001303.4(COX10):c.*1002C>T rs1326135885 0.00001
NM_001303.4(COX10):c.*144T>C rs1906742963 0.00001
NM_001303.4(COX10):c.*485G>A rs931361027 0.00001
NM_001303.4(COX10):c.*564dup rs886052605 0.00001
NM_001303.4(COX10):c.*653G>A rs537449689 0.00001
NM_001303.4(COX10):c.*739A>G rs886052608 0.00001
NM_001303.4(COX10):c.1186G>A (p.Gly396Ser) rs142336139 0.00001
NM_001303.4(COX10):c.561C>T (p.Pro187=) rs371712806 0.00001
NM_001303.4(COX10):c.674C>T (p.Pro225Leu) rs104894556 0.00001
NM_001303.4(COX10):c.679G>A (p.Val227Ile) rs988356756 0.00001
NM_001303.4(COX10):c.982G>A (p.Ala328Thr) rs777911169 0.00001
NM_001303.4(COX10):c.*1032T>A rs1906768949
NM_001303.4(COX10):c.*1367G>A rs555512140
NM_001303.4(COX10):c.*1383G>A rs145948022
NM_001303.4(COX10):c.*150_*152del rs200239586
NM_001303.4(COX10):c.*151_*152del rs200239586
NM_001303.4(COX10):c.*408G>A rs886052603
NM_001303.4(COX10):c.*539C>A rs1906754704
NM_001303.4(COX10):c.*628C>G rs886052607
NM_001303.4(COX10):c.*646C>A rs7214082
NM_001303.4(COX10):c.*646C>G rs7214082
NM_001303.4(COX10):c.*720G>A rs1174121283
NM_001303.4(COX10):c.*831CT[1] rs397763766
NM_001303.4(COX10):c.-40G>A rs376921957
NM_001303.4(COX10):c.-89G>C rs188803165
NM_001303.4(COX10):c.-89G>T rs188803165
NM_001303.4(COX10):c.-90G>T rs886052598
NM_001303.4(COX10):c.1007A>G (p.Asp336Gly) rs104894557
NM_001303.4(COX10):c.1021G>A (p.Gly341Ser)
NM_001303.4(COX10):c.1037C>T (p.Ser346Leu)
NM_001303.4(COX10):c.1049C>T (p.Pro350Leu)
NM_001303.4(COX10):c.1095C>A (p.Leu365=)
NM_001303.4(COX10):c.1096G>A (p.Val366Met) rs111541535
NM_001303.4(COX10):c.1096G>T (p.Val366Leu) rs111541535
NM_001303.4(COX10):c.1105G>A (p.Ala369Thr)
NM_001303.4(COX10):c.1143C>A (p.Phe381Leu)
NM_001303.4(COX10):c.1154C>G (p.Ala385Gly)
NM_001303.4(COX10):c.1159C>T (p.Pro387Ser)
NM_001303.4(COX10):c.1235TCT[1] (p.Phe413del)
NM_001303.4(COX10):c.123G>A (p.Arg41=) rs886052599
NM_001303.4(COX10):c.1260GCT[6] (p.Leu425_Met426insLeu)
NM_001303.4(COX10):c.1262T>C (p.Leu421Pro)
NM_001303.4(COX10):c.1292G>A (p.Arg431Gln)
NM_001303.4(COX10):c.1292G>C (p.Arg431Pro)
NM_001303.4(COX10):c.1295C>T (p.Pro432Leu)
NM_001303.4(COX10):c.1305C>T (p.Gly435=) rs199737206
NM_001303.4(COX10):c.1306G>A (p.Gly436Arg)
NM_001303.4(COX10):c.1315G>A (p.Gly439Arg)
NM_001303.4(COX10):c.145A>G (p.Thr49Ala)
NM_001303.4(COX10):c.155A>C (p.His52Pro)
NM_001303.4(COX10):c.172C>T (p.Arg58Cys)
NM_001303.4(COX10):c.177+1G>A
NM_001303.4(COX10):c.212A>G (p.Gln71Arg)
NM_001303.4(COX10):c.212A>T (p.Gln71Leu)
NM_001303.4(COX10):c.232C>G (p.Pro78Ala)
NM_001303.4(COX10):c.233C>G (p.Pro78Arg)
NM_001303.4(COX10):c.238G>A (p.Ala80Thr)
NM_001303.4(COX10):c.250C>T (p.Leu84Phe)
NM_001303.4(COX10):c.295A>G (p.Met99Val)
NM_001303.4(COX10):c.385G>T (p.Asp129Tyr)
NM_001303.4(COX10):c.412A>T (p.Lys138Ter)
NM_001303.4(COX10):c.413_414del (p.Lys138fs) rs2142182514
NM_001303.4(COX10):c.424C>T (p.Arg142Trp)
NM_001303.4(COX10):c.491A>C (p.Lys164Thr)
NM_001303.4(COX10):c.49G>A (p.Val17Ile)
NM_001303.4(COX10):c.520G>A (p.Ala174Thr) rs2142200228
NM_001303.4(COX10):c.524C>T (p.Ala175Val)
NM_001303.4(COX10):c.542C>T (p.Pro181Leu)
NM_001303.4(COX10):c.558G>T (p.Trp186Cys)
NM_001303.4(COX10):c.563G>A (p.Cys188Tyr)
NM_001303.4(COX10):c.587C>A (p.Thr196Lys) rs104894555
NM_001303.4(COX10):c.599C>A (p.Ser200Tyr)
NM_001303.4(COX10):c.612C>A (p.Asn204Lys) rs104894560
NM_001303.4(COX10):c.620del (p.Asn207fs)
NM_001303.4(COX10):c.624+5G>C
NM_001303.4(COX10):c.637C>T (p.Pro213Ser) rs1597527929
NM_001303.4(COX10):c.638C>T (p.Pro213Leu)
NM_001303.4(COX10):c.64T>A (p.Trp22Arg) rs540737897
NM_001303.4(COX10):c.657T>C (p.Asn219=)
NM_001303.4(COX10):c.661A>G (p.Thr221Ala) rs1597527946
NM_001303.4(COX10):c.675G>T (p.Pro225=) rs199609301
NM_001303.4(COX10):c.688C>T (p.Gln230Ter) rs1425392070
NM_001303.4(COX10):c.929-2A>C
NM_001303.4(COX10):c.929-9_929-7dup rs144296730
NM_001303.4(COX10):c.931G>A (p.Ala311Thr)
NM_001303.4(COX10):c.958T>C (p.Ser320Pro)
NM_001303.4(COX10):c.95C>T (p.Ser32Phe)

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